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Objectives Our objective was to investigate the prevalence of small intestinal atresia and Hirschsprung's disease (HD) in infants with Down syndrome (DS) and its impact on outcomes.

Study Design We analyzed the National Inpatient Sample dataset. We included infants with DS, small intestinal atresia, HD, and the concomitant occurrence of both conditions. Regression analysis was used to control clinical and demographic variables.

Results A total of 66,213,034 infants were included, of whom, 99,861 (0.15%) had DS. The concomitant occurrence of small intestinal atresia and HD was more frequent in infants with DS compared with the general population, adjusted odds ratio (aOR): 122, 95% confidence interval (CI): 96–154, (p < 0.001). Infants with DS and concomitant small intestinal atresia and HD had higher mortality compared with those without these conditions, aOR: 8.59, 95% CI: 1.95–37.8.

Conclusion Infants with DS are at increased risk of concomitant small intestinal atresia and HD, and this condition is associated with increased mortality.

Key Points

Infants with Down syndrome are at increased risk of congenital GI anomalies.

Infants with Down syndrome are at increased risk of necrotizing enterocolitis.

Increased mortality in Down syndrome infants with concomitant small intestinal atresia and Hirschsprung's disease.

Keywords Hirschsprung's disease - duodenal atresia - trisomy 21 - mortality Authors' Contributions

M.M.E. and J.C. conceptualized and designed the study, interpreted the statistical analyses, drafted the initial manuscript, reviewed, and revised the manuscript and critically reviewed the manuscript for important intellectual content. F.S. conceptualized and designed the study, conducted statistical analyses, edited and revised the initial manuscript, reviewed and revised the manuscript, and critically reviewed the manuscript for important intellectual content. M.A.M. and H.A. conceptualized and designed the study, interpreted the statistical analyses, reviewed, and revised the manuscript and critically reviewed the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

Ethical Approval

The study was approved by the local Ethics Committee of Faculty of Medicine, Menoufia University and it complies with the Helsinki Declaration of 1964, as revised in 2013.

Patients' Consent

Written informed consent was obtained from the parents of all subjects of the study before enrollment.

Publication History

Received: 08 August 2023

Accepted: 16 April 2024

Article published online:
14 May 2024

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